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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826181181
Gene: TERT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
661893
ClinVar RCV Id:
RCV002535504
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001180305.1:p.Ala68Val
CA359058812
NM_001193376.3:c.203C>T